Wolfgang Sperl

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Publications in SciGraph latest 50 shown

  • 2018-12 Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-12 Next-Generation-Sequenzierung – Next-Generation-Qualität in der Pädiatrie in PÄDIATRIE & PÄDOLOGIE
  • 2018-02 Atopische Dermatitis eines voll gestillten Säuglings bei veganer Ernährung der Mutter in MONATSSCHRIFT KINDERHEILKUNDE
  • 2018-02 Mitochondrial translation requires folate-dependent tRNA methylation in NATURE
  • 2017-02 Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-09 54. Jahrestagung der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde in PÄDIATRIE & PÄDOLOGIE
  • 2015-12 Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD) in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-12 Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-10 Kinder und Jugendliche auf der Flucht in PÄDIATRIE & PÄDOLOGIE
  • 2015-10 Mitochondriopathien – neue Trends in Diagnostik und Therapie in MEDIZINISCHE GENETIK
  • 2015-09 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-07 Spectrum of combined respiratory chain defects in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-05 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-05 TMEM70 deficiency: long-term outcome of 48 patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-05 Erratum to: TMEM70 deficiency: long-term outcome of 48 patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-05 Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2014-09 Angeborene Stoffwechselstörungen in PÄDIATRIE & PÄDOLOGIE
  • 2014-07 Lipoic acid biosynthesis defects in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2014-02 Verwendung von Kuhmilch im Säuglingsalter in MONATSSCHRIFT KINDERHEILKUNDE
  • 2014 Der plötzliche Säuglingstod und Stoffwechselstörungen in DER PLÖTZLICHE SÄUGLINGSTOD
  • 2013-11 Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2013-08 Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-01 Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2013-01 Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-09 Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-09 Brücken bauen in MONATSSCHRIFT KINDERHEILKUNDE
  • 2012-09 Mitochondriale Erkrankungen im Kindes- und Jugendalter in MEDIZINISCHE GENETIK
  • 2012-09 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-09 Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET) in MEDIZINISCHE GENETIK
  • 2011-09 Mitochondriopathien in MONATSSCHRIFT KINDERHEILKUNDE
  • 2011-07 Rehabilitation im Kindes- und Jugendalter in MONATSSCHRIFT KINDERHEILKUNDE
  • 2011-07 Rehabilitation für Kinder und Jugendliche in Österreich in MONATSSCHRIFT KINDERHEILKUNDE
  • 2010-12 Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma in BMC CANCER
  • 2009-12 Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study in BMC MEDICAL GENETICS
  • 2009-12 PDH E1β deficiency with novel mutations in two patients with Leigh syndrome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-05 Lack of complex I is associated with oncocytic thyroid tumours in BRITISH JOURNAL OF CANCER
  • 2008-12 Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency in BMC GENOMICS
  • 2008-11 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy in NATURE GENETICS
  • 2008-09 Pädiatrische Inhalte der österreichischen Medizincurricula Neu? Anders? Besser? in PÄDIATRIE & PÄDOLOGIE
  • 2007-01 Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria in EUROPEAN JOURNAL OF PEDIATRICS
  • 2006-06 Gangliocytes in neuroblastic tumors express alarin, a novel peptide derived by differential splicing of the galanin-like peptide gene in JOURNAL OF MOLECULAR NEUROSCIENCE
  • 2006-02 Platelet transfusion can mimic somatic mtDNA mutations in LEUKEMIA
  • 2006-01 Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism in BRITISH JOURNAL OF CANCER
  • 2004-06 Reduced Respiratory Control with ADP and Changed Pattern of Respiratory Chain Enzymes as a Result of Selective Deficiency of the Mitochondrial ATP Synthase in PEDIATRIC RESEARCH
  • 2004-06 Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-04 Expression of Neuropeptide Galanin and Galanin Receptors in Human Skin in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2003-07 Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
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